Pubmed du 15/06/19

samedi 15 juin 2019

1. Alkhaldi RS, Sheppard E, Mitchell P. Is There a Link Between Autistic People Being Perceived Unfavorably and Having a Mind That Is Difficult to Read ?. J Autism Dev Disord. 2019.

The link between autistic people having a mind that is difficult to read (by neurotypical participants) and being perceived unfavorably was investigated. Videoed Autistic and neurotypical targets from Sheppard et al. (PLOS ONE 7(11):e49859, 2016) were scored for how readable they were when reacting to a distinctive greeting from the experimenter. These videos were presented to new groups of perceivers (neurotypical adults) who rated neurotypical targets more socially favorably than autistic targets irrespective of whether details of the experimenter’s greeting were concealed (Study 1) or disclosed (Study 2). Target readability correlated with ratings of target favorability (r = .58 and r = .63), independent of target diagnosis. Perceivers might rate targets unfavorably because they experience difficulty reading them, though other interpretations of the correlation are also possible.

In her recent paper ’Non-complicit : Revisiting Hans Asperger’s Career in Nazi-era Vienna,’ Dean Falk claims to refute what she calls ’allegations’ about Hans Asperger’s role during National Socialism documented in my 2018 paper ’Hans Asperger, National Socialism, and "race hygiene" in Nazi-era Vienna’ and Edith Sheffer’s book ’Asperger’s Children.’ Falk’s paper, which relies heavily on online translation software, does not contain a single relevant piece of new evidence, but abounds with mistranslations, misrepresentations of the content of sources, and basic factual errors, and omits everything that does not support the author’s agenda of defending Hans Asperger’s record. The paper should never have passed peer review and, in view of the academic credibility of all parties concerned, it should be retracted.

OBJECTIVE : To determine the prevalence and identify risk factors of autism spectrum disorders (ASDs) and neurodevelopmental delays in giant omphalocele (GO) survivors. MATERIALS AND METHODS : The study cohort consists of 47 GO survivors enrolled in our follow-up program between 07/2004 and 12/2015. All patients underwent assessments at 2years of age or older. Outcomes were assessed by either the Bayley Scales of Infant Development II (prior 2006) or III (after 2006), or the Wechsler Preschool and Primary Scale of Intelligence (children older than 4years). ASD diagnosis was made based on the Diagnostic and Statistical Manual of Mental Disorders IV (prior to 2014) or 5 criteria. RESULTS : The prevalence of ASD in GO children is 16 times higher than the general population (P=0.0002). ASD patients were more likely to be diagnosed with neurodevelopmental and neurofunctional delays, language disorders, and genetic abnormalities (P<0.01). While 53.2% of GO children scored within the average range for all developmental domains, 19.1% scored within the mildly delayed and 27.7% in the severe delayed range in at least one domain. Prolonged respiratory support, pulmonary hypertension, gastroesophageal reflux disease, feeding problems, prolonged hospitalization, abnormal BAER hearing screen, presence of delayed motor coordination, and hypotonicity were associated with delayed scores (P<0.05). CONCLUSIONS : There is a significant rate of ASD in GO survivors. Neurodevelopmental delays, language delays, and genetic abnormalities were strongly associated with ASD. Neurological impairments were present in nearly half of GO children. Surrogate markers of disease severity were associated with below average neurodevelopmental scores. Level of evidence Level IV.

Little is known regarding the dynamic interactions between fathers and mothers in families of children with autism spectrum disorder (ASD) during the parenting process. This study used an actor-partner interdependence mediation (APIMeM) model to investigate the intrapersonal and interpersonal effects of emotion dysregulation and parenting stress on parenting behaviors among 211 pairs (total N = 422) of Chinese parents of children with ASD. The results indicated that for both fathers and mothers, there were significant indirect actor effects of parental emotion dysregulation on parents’ own parenting behaviors through their own parenting stress. However, no significant direct or indirect partner effect was found in the analyses. These findings suggest that the emotional parenting dynamics occurred on the individual rather than the dyadic level in these families.

Schizophrenia and autism spectrum disorder have long been associated with elevated levels of various small phenolic molecules (SPMs). In turn, the gut microbiota (GMB) has been implicated in the kinetics of many of these analytes. Unfortunately, research into the possible relevance of GMB-mediated SPMs to neuropsychiatry continues to be limited by heterogeneous study design, numerous sources of variance and technical challenges. Some SPMs have multiple structural isomers and most have conjugates. Without specialized approaches, SPMs can be incorrectly assigned or inaccurately quantified. In addition, SPM levels can be affected by dietary polyphenol or protein consumption and by various medications and diseases. Nonetheless, heterotypical excretion of various SPMs in association with schizophrenia or autism continues to be reported in independent samples. Recent studies in human cerebrospinal fluid demonstrate the presence of many SPMs A large number of these are bioactive in experimental models. Whether such mechanisms are relevant to the human brain in health or disease is not known. Systematic metabolomic and microbiome studies of well-characterized populations, an appreciation of multiple confounds, and implementation of standardized approaches across platforms and sites are needed to delineate the potential utility of the phenolic interactome in neuropsychiatry.

Background : An emerging literature suggests that autistic adults are at increased risk of experiencing suicidal thoughts, making suicidal plans and attempts, and dying by suicide. However, few studies have investigated whether autistic traits are related to suicidal behaviour. The current study examined autistic traits in a sample of adults who reported at least one suicide attempt. Methods : An online questionnaire was advertised between June and September 2017 on suicide prevention websites, research databases, and social media. Participants reported whether they had ever attempted suicide (yes/no), and if so, how many times they had attempted (once/more than once). They also reported diagnosed and suspected mental health or neurodevelopmental conditions, and completed the Autism Spectrum Quotient (AQ). Two hundred forty-five adults accessed the survey ; 132 reported having attempted suicide and also completed the AQ. It was hypothesised that AQ total scores and subscale scores would be higher in adults who had attempted suicide more than once compared to adults who had attempted once. These hypotheses were tested using an independent samples t test, Mann-Whitney U tests, and binary logistic regression. Results : Most participants were female (83.3%, male = 12.9%, other = 3.8%), and ages ranged from 18 to 65 (median = 36.00 ; IQR = 19.00). Total AQ scores, as well as communication and imagination subscale scores were significantly higher in adults who had attempted suicide more than once compared to adults who had attempted suicide once. Even after removing participants with diagnosed or suspected autism (n = 34), 40.6% had an AQ score indicative of clinical concern (>/= 26). Conclusions : The findings suggest that high levels of autistic traits may frequently be present in adults who have attempted suicide, and that AQ scores are higher in those with a history of more than one suicide attempt. It may be possible to better identify suicide risk by screening autistic adults with mental health conditions for suicidal thoughts and behaviours, and by screening people with suicidal thoughts and/or behaviours for autism.

Excess de novo likely gene-disruptive and missense variants within dozens of genes have been identified in autism spectrum disorder (ASD) and other neurodevelopmental disorders. However, many rare inherited missense variants of these high-risk genes have not been thoroughly evaluated. In this study, we analyzed the rare missense variant burden of POGZ in a large cohort of ASD patients from the Autism Clinical and Genetic Resources in China (ACGC) and further dissected the functional effect of disease-associated missense variants on neuronal development. Our results showed a significant burden of rare missense variants in ASD patients compared to the control population (P=4.6x10(-5), OR=3.96), and missense variants in ASD patients showed more severe predicted functional outcomes than those in controls. Furthermore, by leveraging published large-scale sequencing data of neurodevelopmental disorders (NDDs) and sporadic case reports, we identified 8 de novo missense variants of POGZ in NDD patients. Functional analysis revealed that two inherited, but not de novo, missense variants influenced the cellular localization of POGZ and failed to rescue the defects in neurite and dendritic spine development caused by Pogz knockdown in cultured mouse primary cortical neurons. Significantly, L1CAM, an autism candidate risk gene, is differentially expressed in POGZ deficient cell lines. Reduced expression of L1cam was able to partially rescue the neurite length defects caused by Pogz knockdown. Our study showed the important roles of rare inherited missense variants of POGZ in ASD risk and neuronal development and identified the potential downstream targets of POGZ, which are important for further molecular mechanism studies.